Variant report

Variant	rs61840078
Chromosome Location	chr1:223269618-223269619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223268458..223270530-chr1:223275710..223277683,2	MCF-7	breast:
2	chr1:223261756..223264269-chr1:223267551..223270290,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10443637	0.98[ASN][1000 genomes]
rs10443638	0.98[ASN][1000 genomes]
rs10443639	0.98[ASN][1000 genomes]
rs10443640	0.98[ASN][1000 genomes]
rs1100886	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1100887	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12729658	0.98[ASN][1000 genomes]
rs12748315	0.98[ASN][1000 genomes]
rs1640840	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1773714	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1773718	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1773726	0.80[EUR][1000 genomes]
rs1773727	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1773729	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1861172	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2430402	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2430403	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2487831	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2487833	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28460738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28499047	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28522106	0.98[ASN][1000 genomes]
rs28575203	0.81[ASN][1000 genomes]
rs28594689	0.97[ASN][1000 genomes]
rs28691199	0.89[ASN][1000 genomes]
rs28880136	0.98[ASN][1000 genomes]
rs34253986	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35251562	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795742	0.85[ASN][1000 genomes]
rs3795743	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4661281	0.85[ASN][1000 genomes]
rs4661282	0.88[ASN][1000 genomes]
rs5744174	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61840074	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61840137	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61840138	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61840140	0.98[ASN][1000 genomes]
rs61840141	0.98[ASN][1000 genomes]
rs61840142	0.98[ASN][1000 genomes]
rs712866	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7547359	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs851134	0.83[EUR][1000 genomes]
rs851135	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs851136	0.82[ASN][1000 genomes]
rs851137	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs851138	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs851139	0.82[ASN][1000 genomes]
rs851178	0.82[EUR][1000 genomes]
rs851179	0.82[EUR][1000 genomes]
rs851180	0.82[EUR][1000 genomes]
rs851181	0.83[EUR][1000 genomes]
rs851183	0.83[EUR][1000 genomes]
rs851184	0.83[EUR][1000 genomes]
rs851186	0.82[EUR][1000 genomes]
rs851187	0.83[EUR][1000 genomes]
rs851188	0.82[EUR][1000 genomes]
rs851189	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs851190	0.80[ASN][1000 genomes]
rs851192	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs851193	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs864834	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs877327	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs887947	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223263400-223270600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223265800-223271600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:223268000-223271000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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